OntologyTermatypical teratoid rhabdoid tumor

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   July 13th, 2017 at 6:53pm

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definition 
An aggressive malignant embryonal neoplasm arising from the central nervous system. It is composed of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm. Mutations of the INI1 gene or very rarely SMARCA4 (BRG1) gene are present. The vast majority of cases occur in childhood. Symptoms include lethargy, vomiting, cranial nerve palsy, headache, and hemiplegia.
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http://www.ebi.ac.uk/efo
preferred_name 
atypical teratoid rhabdoid tumor
references 
  1. None
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synonyms 
  1. Atypical Teratoid/Rhabdoid Tumor
term_id 
EFO:1002008
term_name 
atypical teratoid rhabdoid tumor
term_url 
http://www.ebi.ac.uk/efo/EFO_1002008
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@type 
  1. OntologyTerm
  2. Item
date_created 
July 13th, 2017
external_references 
  1. None
schema_version 
1
status 
Released
uuid 
bc7fc82e-0b73-4563-915b-952f9c1308d0